ZFIN Human Disease: congenital disorder of glycosylation Il

OBO ID: DOID:0080564

Term Name:	congenital disorder of glycosylation Il		Search Ontology:
Synonyms:	congenital disorder of glycosylation 1l
Definition:	A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/26453364
References:	GARD:9839 OMIM:608776 ORDO:79328
Ontology:	Human Disease ( DOID:0080564 )

Relationships

is a type of:	autosomal recessive disease congenital disorder of glycosylation type I autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

OTHER congenital disorder of glycosylation Il PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALG9	alg9	Congenital disorder of glycosylation, type Il	608776

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None